A25K (p.Ala25Lys) variant of KCNQ5 (Q9NR82)
A25K (p.Ala25Lys) in KCNQ5 (Q9NR82) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A25K (p.Ala25Lys) variant details
- p.Ala25Lys
- gnomAD 6-72622261-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 29.90
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available